Article
AIFM1 mutation presenting with fatal encephalomyopathy and mitochondrial disease in an infant.
Cold Spring Harbor molecular case studies - 1 Mar 2017
Morton Sarah U, Prabhu Sanjay P, Lidov Hart G W, Shi Jiahai, Anselm Irina, Brownstein Catherine A, Bainbridge Matthew N, Beggs Alan H, Vargas Sara O, Agrawal Pankaj B
Abstract excerpt
Apoptosis-inducing factor mitochondrion-associated 1 (AIFM1), encoded by the gene AIFM1, has roles in electron transport, apoptosis, ferredoxin metabolism, reactive oxygen species generation, and immune system regulation. Here we describe a patient with a novel AIFM1 variant presenting unusually early in life with mitochondrial disease, rapid deterioration, and death. Autopsy, at the age of 4 mo, revealed...
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